Development of a neurologic severity scale for Aicardi Goutières Syndrome

BACKGROUND AND PURPOSE: Aicardi Goutières Syndrome (AGS) is a severe, autoinflammatory leukodystrophy characterized by global neurologic dysfunction. Our goal was to create an easy-to-apply scale relevant to the unique developmental challenges associated with AGS. METHODS: All individuals were recru...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Adang, Laura A., Gavazzi, Francesco, Jawad, Abbas F., Cusack, Stacy V., Kopin, Kimberly, Peer, Kyle, Besnier, Constance, De Simone, Micaela, De Giorgis, Valentina, Orcesi, Simona, Fazzi, Elisa, Galli, Jessica, Shults, Justine, Vanderver, Adeline
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7366613/
https://ncbi.nlm.nih.gov/pubmed/32279991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2020.03.008
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